Spinal Muscular Atrophy is an autosomal recessive rare neuromuscular disorder that is characterized by loss of motor neurons and progressive muscle wasting. Spinal Muscular Atrophy usually results in early death. Symptoms of Spinal Muscular Atrophy are:
• Areflexia in extremes
• Overall muscle weakness
• Poor muscle tone
• Tendency to flop
• Difficulty in achieving developmental milestones
• Weak cough
• Loss of strength of respiratory muscles
• Bell shaped torso
• Twitching of the tongue
• Poor feeding
• Difficulty in swallowing
HOW IS SPINAL MUSCULAR ATROPHY DIAGNOSED?
A diagnosis usually comes only after the child undergoes several tests that rule out other diseases that cause similar symptoms. These tests usually include:
• nerve conduction tests, such as an electromyogram (EMG)
• computed tomography (CT) scan
• magnetic resonance imaging (MRI)
• muscle tissue biopsy
HOW IS SPINAL MUSCULAR ATROPHY TREATED?
Although there is no pharmacological treatment to Spinal Muscular Atrophy, care is symptomatic.
DID YOU KNOW?
In severe cases of Spinal Muscular Atrophy, the muscles used for breathing and swallowing are affected.